AusCADASIL: An Australian Cohort of CADASIL
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 300
- 试验地点
- 5
- 主要终点
- Alphabet required for Trail Making A/B
研究概览
简要总结
The aim of this project is to establish an Australian cohort of patients diagnosed with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL). This study will examine the clinical features and longitudinal course of CADASIL. Outcome measures include neuropsychological profile, neuroimaging, genetics, blood biomarkers, and retinal imaging.
详细描述
Using clinical examination, questionnaires, neuropsychological evaluation, brain MRI, blood sample evaluation and retinal imaging, we aim to characterise the clinical profile and progression of CADASIL in an Australian cohort.
This is multi-centre observational cohort study currently based at six sites (clinics, hospitals and universities) across three states in Australia (New South Wales, Victoria and Queensland). The multidisciplinary team aims to be the first to develop an Australian cohort of CADASIL which will contribute to global efforts and understanding of the disease.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Prospective
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- 未提供
排除标准
- 未提供
结局指标
主要结局
Alphabet required for Trail Making A/B
时间窗: Baseline, Year 1, Year 2, Year 3, Year 4
As part of the neuropsychological battery, participants will need to complete the alphabet to inform ability to complete Trail Making tests A and B. These indicate executive function
Montreal Cognitive Assessment (MoCA)
时间窗: Baseline, Year 1, Year 2, Year 3, Year 4
As part of the neuropsychological battery, participants will complete the MoCA to provide a measure of global cognitive function
National Institute of Health Computerised Toolbox (NIHCTB)
时间窗: Baseline, Year 1, Year 2, Year 3, Year 4
As part of the neuropsychological battery, participants will complete the NIHCTB to provide measures of global function
Modified Rankin Scale (mRS)
时间窗: Baseline, Year 1, Year 2, Year 3, Year 4
Participants will undergo structured physical examination which will provide further details on their clinical profile. Scale from 0-5 (0 no symptoms, 5 severe disability)
National Institute of Health Stroke Scale (NIHSS)
时间窗: Baseline, Year 1, Year 2, Year 3, Year 4
Participants will undergo structured physical examination which will provide further details on their clinical profile. Individual items (11) relating to stroke symptoms and disability, for each item 0 indicates normal.
Brain MRI scan (total scan time 60 mins)- includes T1 weighted imaging
时间窗: Baseline, Year 3
To assess brain morphology
Brain MRI scan (total scan time 60 mins)- includes resting-state blood oxygenation level dependent (BOLD) imaging.
时间窗: Baseline, Year 3
Used to assess brain functional activity and amplitude of low-frequency fluctuations which embeds signal of cerebrovascular reactivity. For sites with available capnography monitors, participants' end-tidal carbon dioxide concentrations will be recorded during acquiring resting-state BOLD data for more accurate quantification of cerebrovascular reactivity
Weight and height will be combined to report BMI in kg/m^2
时间窗: Baseline, Year 1, Year 2, Year 3, Year 4
Participants will undergo structured physical examination which will provide further details on their clinical profile.
Blood Pressure
时间窗: Baseline, Year 1, Year 2, Year 3, Year 4
Participants will undergo structured physical examination which will provide further details on their clinical profile. Systolic/diastolic blood pressure will be recorded 3 times during the physical examination
Category Fluency (animals)
时间窗: Baseline, Year 1, Year 2, Year 3, Year 4
As part of the neuropsychological battery, participants will complete Category Fluency to provide a measure of processing speed
Digit Span Backwards (WAIS-IV)
时间窗: Baseline, Year 1, Year 2, Year 3, Year 4
As part of the neuropsychological battery, participants will complete digit span backwards to provide a measure of executive function
Brain MRI scan (total scan time 60 mins)- includes pseudo-continuous arterial spin labelling (PCASL) perfusion imaging with multiple post-labelling delays.
时间窗: Baseline, Year 3
Used to assess quantitative cerebral blood flow and arterial transit time.
Online Medical Questionnaire
时间窗: Baseline, Year 1, Year 2, Year 3, Year 4
Includes questions on participant's medical history (CADASIL and other), family history, and medication use. Outcome will be used to inform clinical profile
Letter Fluency (FAS)
时间窗: Baseline, Year 1, Year 2, Year 3, Year 4
As part of the neuropsychological battery, participants will complete the FAS to provide measures of executive function
Rey Auditory Verbal Learning Test (RAVLT)
时间窗: Baseline, Year 1, Year 2, Year 3, Year 4
As part of the neuropsychological battery, participants will complete the RAVLT to provide measures of learning and memory
Brain MRI scan (total scan time 60 mins)- includes T2-weighted fluid attenuated inversion recovery (FLAIR) imaging
时间窗: Baseline, Year 3
Combined with T1 outcome to assess brain morphology
Brain MRI scan (total scan time 60 mins)- includes susceptibility-weighted MRI
时间窗: Baseline, Year 3
Assesses cerebral microbleeds. Signal magnitude will be processed to estimate signal decay time (i.e., T2\* maps), which reflect compartmentalisation of magnetised tissue constituents (iron, calcium) \[22\]. Signal phase will be processed for quantitative susceptibility mapping.
Brain MRI scan (total scan time 60 mins)- includes multi-shell diffusion weighted MRI
时间窗: Baseline, Year 3
Measures of brain white matter microstructural integrity, such as fractional anisotropy and mean diffusivity, will be calculated using tensor models. Fixel-based analyses of fibre density and cross-section will also be performed. Markers of cerebrovascular diseases derived from diffusion data, such as Peak width of Skeletonised Mean Diffusivity (PSMD), will be calculated. Structural connectivity will also be examined.
次要结局
- Instrumental Activities of Daily Living Scale (IADL)(Baseline)
- Multidimensional Fatigue Inventory (MFI)(Baseline)
- Study Partner Instrumental Activities of Daily Living Scale (IADL)(Baseline)
- Ocular Assessment- Stereopsis(Baseline and year 3)
- Blood biochemistry(Baseline, Year 3)
- Ocular Questionnaire(Baseline, Year 3)
- Apathy Evaluation Scale (AES)(Baseline)
- Neuropsychiatric Inventory (NPI-Q)(Baseline)
- Ocular Assessment-Visual Acuity(Baseline and year 3)
- Genetic Profile(Baseline)
- Ocular Assessment- Slit-lamp examination(Baseline and year 3)
- Ocular Assessment- Standard automated perimetry(Baseline and year 3)
- Quality of Life Scale (EQ-5D-5L)(Baseline)
- Patient Health Questionnaire-9 (PHQ-9)(Baseline)
- STOP-BANG Sleep Questionnaire(Baseline)
- PROMIS Sleep Disturbance(Baseline)
- Hospital Anxiety and Depression Scale (HADS)(Baseline)
- Study Partner Apathy Evaluation Scale (AES)(Baseline)
- Blood Omic investigation(Baseline and year 3)
- Ocular Assessment- Contrast Sensitivity(Baseline and year 3)
- Ocular Assessment- Intraocular pressure(Baseline and year 3)
- Ocular Assessment- Fundus imaging (requires pupil dilation using tropicamide 0.5 or 1.0% eye drops(Baseline and year 3)
- Ocular Assessment- Optical Coherence Tomography (OCT) and OCT-Angiography(Baseline and year 3)
研究者
Perminder Sachdev
Professor
The University of New South Wales